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Rare Diseases under letter "E"
E3-binding protein deficiency ↗ Eagle-Barret syndrome ↗ Eales disease ↗ Early infantile epileptic encephalopathy ↗ Early infantile epileptic encephalopathy with suppression-bursts ↗ Early myoclonic encephalopathy ↗ Early myoclonic encephalopathy with suppression-bursts ↗ Early-onset autosomal dominant Alzheimer disease ↗ Early onset benign childhood occipital epilepsy ↗ Early onset cerebellar ataxia with retained tendon reflex ↗ Early-onset desmin-related myopathy ↗ Early-onset diabetes mellitus with multiple epiphyseal dysplasia ↗ Early-onset familial autosomal dominant Alzheimer disease ↗ Early-onset generalized torsion dystonia ↗ Early-onset hypertension with exacerbation in pregnancy ↗ Early-onset multiple carboxylase deficiency ↗ Early-onset Parkinson disease ↗ Early-onset parkinsonism - intellectual deficit ↗ Early-onset primary dystonia ↗ Early onset prion disease with prominent psychiatric features ↗ Early-onset sarcoidosis ↗ Early onset torsion dystonia ↗ Early-onset X-linked optic atrophy ↗ Ear-patella-short stature syndrome ↗ Eastern equine encephalitis ↗ Eastern equine encephalomyelitis ↗ Eastman-Bixler syndrome ↗ EBD ↗ E-beta-thalassemia ↗ EBJ ↗ Ebola virus disease ↗ EBS ↗ EBS-MD ↗ Ebstein anomaly of the tricuspid valve ↗ Ebstein malformation ↗ ECO syndrome ↗ ECP syndrome ↗ Ectasia of the left appendage ↗ Ectasia of the left auricle ↗ Ectasia of the right atrial appendage ↗ Ectasia of the right atrial auricle ↗ Ectasic coloboma ↗ Ectodermal dysplasia - absent dermatoglyphs ↗ Ectodermal dysplasia - acanthosis nigricans ↗ Ectodermal dysplasia - arthrogryposis - diabetes mellitus ↗ Ectodermal dysplasia, Berlin type ↗ Ectodermal dysplasia - blindness ↗ Ectodermal dysplasia - cataracts - kyphoscoliosis ↗ Ectodermal dysplasia - cutaneous syndactyly syndrome ↗ Ectodermal dysplasia - ectrodactyly - macular dystrophy ↗ Ectodermal dysplasia - intellectual deficit - central nervous system malformation ↗ Ectodermal dysplasia - osteosclerosis ↗ Ectodermal dysplasia, pure hair-nail type ↗ Ectodermal dysplasia, Rapp-Hodgkin type ↗ Ectodermal dysplasia - sensorineural deafness ↗ Ectodermal dysplasia - skin fragility syndrome ↗ Ectodermal dysplasia - syndactyly syndrome ↗ Ectodermal dysplasia syndrome, Rapp-Hodgkin type ↗ Ectodermal dysplasia, tricho-odonto-onychial type ↗ Ectodermal dysplasia with natal teeth, Turnpenny type ↗ Ectopia lentis - chorioretinal dystrophy - myopia ↗ Ectopic ACTH secreting tumor ↗ Ectopic Cushing syndrome ↗ Ectopic neurohypophysis ↗ Ectrodactyly ↗ Ectrodactyly - cleft palate ↗ Ectrodactyly - ectodermal dysplasia - cleft lip/palate ↗ Ectrodactyly - ectodermal dysplasia without clefting ↗ Ectrodactyly - polydactyly ↗ Ectrodactyly - spina bifida - cardiopathy ↗ Ectropion inferior - cleft lip and or palate ↗ Eczema-thrombocytopenia-immunodeficiency syndrome ↗ EDA-ID ↗ EDCS ↗ Edinburgh malformation syndrome ↗ EDM1 ↗ EDM4 ↗ EDM5 ↗ EDMD ↗ EDMD1 ↗ EDMD3 ↗ EDS, cardiac valvular type ↗ EDS, classic-like type ↗ EDS, classic type ↗ EDS I ↗ EDS II ↗ EDS III ↗ EDS IV ↗ EDS IX ↗ EDS/OI syndrome ↗ EDS, progeroid type ↗ EDSS ↗ EDSS1 ↗ EDSS2 ↗ EDS, spondylocheiro dysplastic type ↗ Edström Myopathy ↗ EDS type 4 ↗ EDS V ↗ EDS, vascular-like type ↗ EDS VI ↗ EDS VIA ↗ EDS VIB ↗ EDS VII ↗ EDS VIIA ↗ EDS VIIB ↗ EDS VIIC ↗ EDS VIII ↗ EDS with periventricular heterotopia ↗ EDS X ↗ EDS XI ↗ Edwards-Patton-Dilly syndrome ↗ Edwards syndrome ↗ Edwards syndrome ↗ EEC ↗ EEC syndrome ↗ EEC syndrome without cleft lip/palate ↗ EEM syndrome ↗ EFMR ↗ EGE ↗ EHK ↗ Ehlers-Danlos/osteogenesis imperfecta syndrome ↗ Ehlers-Danlos syndrome, arthrochalasic type ↗ Ehlers-Danlos syndrome, cardiac valvular type ↗ Ehlers-Danlos syndrome, classic-like type ↗ Ehlers-Danlos syndrome, classic type ↗ Ehlers-Danlos syndrome, dermatosparaxis type ↗ Ehlers-Danlos syndrome, fibronectin-deficient ↗ Ehlers-Danlos syndrome, hypermobile type ↗ Ehlers-Danlos syndrome, kyphoscoliotic type ↗ Ehlers-Danlos syndrome, periodontitis type ↗ Ehlers-Danlos syndrome, progeroid type ↗ Ehlers-Danlos syndrome, spondylocheiro dysplastic type ↗ Ehlers-Danlos syndrome type 1 ↗ Ehlers-Danlos syndrome type 10 ↗ Ehlers-Danlos syndrome type 11 ↗ Ehlers-Danlos syndrome type 2 ↗ Ehlers-Danlos syndrome type 3 ↗ Ehlers-Danlos syndrome type 4 ↗ Ehlers-Danlos syndrome type 5 ↗ Ehlers-Danlos syndrome type 6 ↗ Ehlers-Danlos syndrome type 6A ↗ Ehlers-Danlos syndrome type 6B ↗ Ehlers-Danlos syndrome type 7 ↗ Ehlers-Danlos syndrome type 7A ↗ Ehlers-Danlos syndrome type 7B ↗ Ehlers-Danlos syndrome type 7C ↗ Ehlers-Danlos syndrome type 8 ↗ Ehlers-Danlos syndrome, type 9 ↗ Ehlers-Danlos syndrome type IV ↗ Ehlers-Danlos syndrome type IX ↗ Ehlers-Danlos syndrome, vascular-like type ↗ Ehlers-Danlos syndrome, vascular type ↗ Ehlers-Danlos syndrome with periventricular heterotopia ↗ Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality ↗ Ehrlichiosis ↗ EI ↗ EIEE ↗ EIHI ↗ Eiken syndrome ↗ Eisenmenger syndrome ↗ EKV3 ↗ Elastoderma ↗ Elastofibroma dorsi ↗ Elastoma ↗ Elastosis perforans serpiginosa ↗ Elastotic striae ↗ Electron transfer flavoprotein deficiency ↗ Electron transfer flavoprotein ubiquinone oxidoreductase deficiency ↗ Elejalde disease ↗ Elejalde syndrome ↗ Ellis Van Creveld syndrome ↗ Ellis-Yale-Winter syndrome ↗ Elsching syndrome ↗ Emanuel syndrome ↗ Embryofetopathy due to oral anticoagulant therapy ↗ Embryonal carcinoma ↗ Embryonal rhabdomyosarcoma ↗ Embryonal sarcoma of the liver ↗ Embryonary disorganization syndrome ↗ EMEA ↗ Emerinopathy ↗ Emery-Dreifuss muscular dystrophy ↗ Emery-Nelson syndrome ↗ Encephalitis lethargica ↗ Encephaloclastic proliferative vasculopathy ↗ Encephalocraniocutaneous lipomatosis ↗ Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria ↗ Encephalopathy due to GLUT1 deficiency ↗ Encephalopathy due to hydroxykynureninuria ↗ Encephalopathy due to prosaposin deficiency ↗ Encephalopathy due to sulfite oxidase deficiency ↗ Encephalopathy due to urocanase deficiency ↗ Encephalopathy - intracerebral calcification - retinal degeneration ↗ Encephalopathy with basal ganglia calcification ↗ Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid ↗ Encephalophathy recurrent of childhood ↗ Enchondromatosis ↗ Encircling double aortic arch ↗ Endocrine-cerebro-osteodysplasia syndrome ↗ Endodermal sinus tumor ↗ Endodermal sinus tumor of the central nervous system ↗ Endometrial adenoid cystic carcinoma ↗ Endometrial capillary carcinoma ↗ Endometrial squamous cell carcinoma ↗ Endometrial stromal sarcoma ↗ Endometrial transitional cell carcinoma ↗ Endometrial undifferentiated carcinoma ↗ Endomyocardial fibroelastosis ↗ Endophthalmitis ↗ Endosteal hyperostosis, Worth type ↗ Endosteal sclerosis - cerebellar hypoplasia ↗ Endotheliitis ↗ Engelhard-Yatziv syndrome ↗ Eng-Strom syndrome ↗ Enhanced S-cone syndrome ↗ Enlarged parietal foramina ↗ Enolase deficiency ↗ Enteric anendocrinosis ↗ Enteric duplication cyst of the tongue ↗ Enteropathy-type T-cell lymphoma ↗ Enterovirus antenatal infection ↗ Enthesitis-related arthritis ↗ Envenomization by bothrops lanceolatus ↗ Envenomization by the Martinique lancehead viper ↗ EOCARR ↗ EOFAD ↗ EOPPC ↗ Eosinophilic cellulitis ↗ Eosinophilic endocarditis ↗ Eosinophilic esophagitis ↗ Eosinophilic fasciitis ↗ Eosinophilic gastroenteritis ↗ Eosinophilic granuloma ↗ Eosinophilic lymphogranuloma ↗ EOTD ↗ Ependymoblastoma ↗ Ependymoma ↗ Epibronchial right pulmonary artery syndrome ↗ Epibulbar lipodermoid - preauricular appendage - polythelia ↗ Epidemic typhus ↗ Epidermal hamartoma syndrome ↗ Epidermal nevus syndrome ↗ Epidermal nevus - vitamin D resistant rickets ↗ Epidermodysplasia verruciformis ↗ Epidermolysis bullosa atrophicans ↗ Epidermolysis bullosa dystrophica ↗ Epidermolysis bullosa simplex ↗ Epidermolysis bullosa simplex, Dowling-Meara type ↗ Epidermolysis bullosa simplex due to plakophilin deficiency ↗ Epidermolysis bullosa simplex, generalized non-Dowling-Meara ↗ Epidermolysis bullosa simplex, herpetiformis ↗ Epidermolysis bullosa simplex, Köbner type ↗ Epidermolysis bullosa simplex, Koebner type ↗ Epidermolysis bullosa simplex - limb girdle muscular dystrophy ↗ Epidermolysis bullosa simplex, localized ↗ Epidermolysis bullosa simplex of palms and soles ↗ Epidermolysis bullosa simplex, Ogna type ↗ Epidermolysis bullosa simplex - pyloric atresia ↗ Epidermolysis bullosa simplex superficialis ↗ Epidermolysis bullosa simplex, Weber-Cockayne type ↗ Epidermolysis bullosa simplex with anodontia/hypodontia ↗ Epidermolysis bullosa simplex with migratory circinate erythema ↗ Epidermolysis bullosa simplex with mottled pigmentation ↗ Epidermolytic epidermolysis bullosa ↗ Epidermolytic hyperkeratosis ↗ Epidermolytic ichthyosis ↗ Epidermolytic palmoplantar keratoderma, Voerner type ↗ Epignathus ↗ Epilepsy - dementia - amelogenesis imperfecta ↗ Epilepsy due to FCD ↗ Epilepsy - microcephaly - skeletal dysplasia ↗ Epilepsy telangiectasia ↗ Epilepsy with myoclonic absences ↗ Epilepsy with myoclonic-astatic seizures ↗ Epimetaphyseal skeletal dysplasia ↗ Epiphyseal dysplasia - hearing loss - dysmorphism ↗ Epiphyseal dysplasia - microcephaly - nystagmus ↗ Epiphyseal stippling syndrome - osteoclastic hyperplasia ↗ Episkopi blindness ↗ Episodic ataxia type 1 ↗ Episodic ataxia type 2 ↗ Episodic ataxia type 3 ↗ Episodic ataxia type 4 ↗ Episodic ataxia type 5 ↗ Episodic ataxia type 6 ↗ Episodic ataxia type 7 ↗ Episodic ataxia with myokymia ↗ Episodic choreoathetosis/spasticity ↗ Epispadias ↗ Epithelio-exfoliative colitis - deafness ↗ Epithelioid hemangioendothelioma ↗ Epithelioid trophoblastic tumor ↗ Epithelioma calcificans of Malherbe ↗ Epstein syndrome ↗ ERA ↗ Erdheim-Chester disease ↗ Erdheim disease ↗ Ermine phenotype ↗ Eroded polypoid hyperplasia ↗ Eronen-Somer-Gustafsson syndrome ↗ Erosive pustular dermatosis of the scalp ↗ Eruptive collagenoma ↗ Erythema elevatum diutinum ↗ Erythema palmaris hereditarium ↗ Erythremia ↗ Erythrocyte lactate transporter defect ↗ Erythroderma desquamativa ↗ Erythroedema polyneuritis ↗ Erythrokeratoderma "en cocardes" ↗ Erythrokeratodermia - ataxia ↗ Erythrokeratodermia variabilis 3 ↗ Erythrokeratodermia variabilis, Kamouraska type ↗ Erythrokeratodermia variabilis, Mendes da Costa type ↗ Erythromelalgia ↗ Erythropoietic protoporphyria ↗ Erythropoietic uroporphyria secondary to myeloid malignancy ↗ Escher-Hirt syndrome ↗ Escobar syndrome ↗ Esophageal adenocarcinoma ↗ Esophageal atresia ↗ Esophageal carcinoma ↗ Esophageal duplication cyst ↗ Esophageal squamous cell carcinoma ↗ ESS1 ↗ Essential cryoglobulinemia ↗ Essential iris atrophy ↗ Essential osteolysis ↗ Essential pentosuria ↗ Essential thrombocythemia ↗ Essential thrombocytosis ↗ Esthesioneuroblastoma ↗ Estrogen resistance syndrome ↗ ET ↗ ETFA deficiency ↗ ETFB deficiency ↗ ETFDH deficiency ↗ Ethylene glycol poisoning ↗ Ethylmalonic aciduria ↗ Ethylmalonic encephalopathy ↗ Euhidrotic ectodermal dysplasia ↗ Evans syndrome ↗ Ewing sarcoma ↗ Excessive growth - learning disabilities - facial dysmorphism ↗ Exercise-induced delayed-onset myotonia ↗ Exercise-induced hyperinsulinemic hypoglycemia ↗ Exercise-induced hyperinsulinism ↗ Exner syndrome ↗ Exomphalos - macroglossia - gigantism ↗ Exostoses - anetodermia - brachydactyly type E ↗ Exstrophy-epispadias complex ↗ Extensor tendons of finger anomalies ↗ External auditory canal aplasia/hypoplasia ↗ External auditory canal stenosis/atresia ↗ Extracutaneous mastocytoma ↗ Extralobar congenital bronchopulmonary sequestration ↗ Extralobar congenital pulmonary sequestration ↗ Extramammary Paget disease ↗ Extramedullary myeloid tumor ↗ Extramedullary soft tissue plasmacytoma ↗ Extraneural perineurioma ↗ Extranodal nasal NK/T cell lymphoma ↗ Extra-ovarian primary peritoneal carcinoma ↗ Extraskeletal myxoid chondrosarcoma ↗ Extrasystoles - short stature - hyperpigmentation - microcephaly ↗ Extraventricular neurocytoma ↗ Extrinsic allergic alveolitis ↗ Eyebrow duplication - syndactyly ↗ Eyebrows and eyelashes absence - intellectual deficit ↗ Eye defects - arachnodactyly - cardiopathy ↗ Eyelid myoclonia with and without absences ↗